Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.

American journal of medical genetics. Part A - 30 Aug 2003

De Meirleir Linda, Seneca Sara, Damis Eliane, Sepulchre Brigitte, Hoorens Anne, Gerlo Erik, García Silva M Teres, Hernandez Elena Martín, Lissens Willy, Van Coster Rudy

Abstract excerpt

We investigated two siblings of a Spanish family presenting with congenital lactic acidosis. They had severe failure to thrive, liver dysfunction, and renal tubulopathy. An isolated biochemical complex III deficiency was detected in liver. A search for mutations in the human bc1 synthesis like (B...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to ATPases Associated with Diverse Cellular Activities
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electron Transport Complex III

Share to Fatal Outcome

Share to Infant, Newborn

Share to Microscopy, Electron

Share to Mutation, Missense

Source

Identifiers

PMID: 12910490
DOI: 10.1002/ajmg.a.20171

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12910490-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.PMID 12910490Read ↗

Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient.Semantic proximity Read ↗

Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene.Semantic proximity Read ↗

Clinical and biochemical features associated with BCS1L mutation.Semantic proximity Read ↗

Clinical spectrum of BCS1L Mitopathies and their underlying structural relationshipsSemantic proximity Read ↗

[BCS1Neonatal growth retardation and lactic acidosis initiated by novel mutation sites in L gene].Semantic proximity Read ↗

Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.Semantic proximity Read ↗

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.Semantic proximity Read ↗

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.Semantic proximity Read ↗

BCS1L mutations produce Fanconi syndrome with developmental disability.Semantic proximity Read ↗

Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A.Semantic proximity Read ↗

Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.Semantic proximity Read ↗

BCS1L-Associated Disease: 5'-UTR Variant Shifts the Phenotype Towards Axonal Neuropathy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.